GM1 Gangliosidosis
Conditions
Keywords
GM1 gangliosidosis, Landing disease, Lysosomal Storage Disease
Brief summary
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures. In addition, parents report that clinic-based assessments are not always well-suited to capture all the disease features and other metrics that have an impact on the patient and family. To address the methodological challenges of this small, heterogeneous population, this study will collect patient-specific home-based video data and qualitative interviews with caregivers.
Detailed description
This is a natural history study, for up to 2 years, during which parents or guardians of a child with GM1 gangliosidosis collect video data of patients doing specific daily life activities at baseline and follow-up timepoints throughout the study (3, 6, 12, 18, and 24 months) and/or submit videos taken in the past through a secure smart phone mobile application. The video assessments focus on several hallmarks of GM1 gangliosidosis progression. Caregivers participate in qualitative interviews to provide context for the videos and discuss any changes they observe during the study. Activity videos will be evaluated by expert clinicians using both Clinical Global Impression of Severity (CGI-S) and Clinical Global Impression of Change (CGI-C) scales. The caregiver interviews and clinician-rated activities will inform the patient-specific disease trajectories for each hallmark. There is no treatment or intervention associated with this study.
Interventions
OTHERNatural history
Parent interview and video capture
Sponsors
Casimir, LLC
Cure GM1 Foundation
LYSOGENE
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
Be or have been the parent, legal guardian, or caretaker of a patient with GM1 gangliosidosis with: 1. Early infantile GM1 gangliosidosis 2. Late infantile GM1 gangliosidosis 3. Juvenile GM1 gangliosidosis who can walk with assistance or possesses past videos of when child could walk with assistance 4. Early or late infantile GM1 gangliosidosis who has passed away, but is in possession of videos documenting the onset and evolution of disease hallmarks of GM1 gangliosidosis
Exclusion criteria
GM1 gangliosidosis patient that the caregiver cares for is being treated with any experimental medication in a clinical trial setting.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Scheduled Video Capture | up to 24 months | Caregivers will record GM1 gangliosidosis participants doing specific activities of daily living. A list of standardized activities will be provided at baseline and the caregiver will select the activities that are relevant to the GM1 gangliosidosis participant. The activities include: gross motor skills, fine motor skills, caregiver interaction, communication, self-care and visual tracking. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Unscheduled Video Capture | up to 24 months | In addition to the scheduled video captures, spontaneously-captured videos may also be submitted by the caregivers at any time. These spontaneous videos should demonstrate any behavior or ability that the caregivers consider to be a meaningful change for the participant. |
| Caregiver Interviews | up to 24 months | Casimir study staff will conduct video interviews with the caregivers at baseline and follow-up timepoints . |
Countries
United States
Outcome results
None listed